Selected Publications

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Markello TC, Adams DA, Golas G, Schreiber JM, Lehky TJ, Simeonov DR, Mullikin JC, Tifft  C, Toro C, Boerkeol CF, Traynelis SF, Gahl WA. GRIN2A mutation and epileptic encephalopathy: therapy with memantine. 2014 [In publication, Annals of Clinical and Translational Neurology].

Yuan H, Hansen KB, Zhang J, Pierson TM, Markello T, Fuentes-Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Functional analysis of ade novo missense mutation in GRIN2A associated with early-onset epileptic encephalopathy. 2013 [In publication, Nature Communications].

Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E,  Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC. Auditory analysis of xerodermapigmentosum, 1971–2012: Hearing function, acute sun-sensitivity and DNA repair complementation group predict neurologic degeneration. Brain. 2013;136:194–208.

Pierson TM, Torres PA, Zeng BJ, Finkel RS, Mahuran DJ, Pastores GH, Tennekoon GI, Kolodny EH. Juvenile Sandhoff disease presenting as motor neuron disease: Novel mutations and therapeutic insights. Mol Genet Metab. 2013;108(1):65–69.

Pierson TM, Adams DR, Markello TC, Golas G, Yang S, Sincan M, Simeonov DR, K Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC, Boerkeol CF, Gahl WA, Tifft C. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 2012;79(2):123–126.

Pierson TM, Simeonov DR, Adams DA, Markello TC, Golas G, NISC, Blackstone C, Tifft C, Boerkeol CF, Sincan M, Gahl WA. SNP analysis and exome sequencing detects compound heterozygosity for fatty acid 2-hydroxylase deficiency. European Journal of Human Genetics. 2012;20(4):476–479.

Gahl WA, Markello TC, Toro C, Fuentes-Fajardo K, Sincan M, Gill F, Carlson-Donohoe H, Pierson TM, Golas G, Wolfe L, Godfrey R, Nehrebecky M, Wahl C, Boerkoel N, Tifft C, Adams D. The NIH Undiagnosed Diseases Program: Insights into rare diseases. Genetics in Medicine. 2012;14(1):51–59.

Pierson TM, Adams D, Bonn F, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC, Blakesley RW, Golas G, Kwan J, Blackstone C, Sandler A, Markello T, Fuentes Fajardo K, Tifft C, Rugarli E, Langer T, Gahl WA, Toro C. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a novel spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genetics. 2011;7(10).

Pierson TM, Tart G, Adams D, Golas G, Toro C, Tifft C, Gahl WA. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a twenty-year old man. Neuromuscular Disorders. 2011;21(5):353–355.

Cable C, Finkel RS, Lehky T, Biassou N, Wiggs EA, Bunin N, Pierson TM. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy: Five-year follow-up evaluation. Molecular Genetics and Metabolism. 2011;102(2):207–209.

Pierson TM, Bonnemann CG, Finkel RS, Bunin N, Tennekoon GI. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Annals of Neurology. 2009;64(5):583–587.

Pierson TM, Wang Y, DeMayo FJ, Matzuk MM, Tsai SY, O’Malley BW. Regulable expression of inhibin A in wild-type and inhibin alpha null mice. Molecular Endocrinology. 2000;14(7):1075–1085.

Wang Y, Xu J, Pierson TM, O’Malley BW, Tsai SY. Positive and negative regulation of gene expression in eukaryotic cells with an inducible transcriptional regulator. Gene Therapy. 1997;4:432–441.

Pierson TM, Wolfe JH. Gene therapy for inherited diseases of the central nervous system. In: Lynch D, ed. Neurogenetics: Scientific and Clinical Advances. New York: Marcel Dekker, Inc.; 2005:43–85.